rs370865189

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs370865189(G;T)

Make rs370865189(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50187128

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs370865189
dbSNP (classic)	rs370865189
ClinGen	rs370865189
ebi	rs370865189
HLI	rs370865189
Exac	rs370865189
Gnomad	rs370865189
Varsome	rs370865189
LitVar	rs370865189
Map	rs370865189
PheGenI	rs370865189
Biobank	rs370865189
1000 genomes	rs370865189
hgdp	rs370865189
ensembl	rs370865189
geneview	rs370865189
scholar	rs370865189
google	rs370865189
pharmgkb	rs370865189
gwascentral	rs370865189
openSNP	rs370865189
23andMe	rs370865189
SNPshot	rs370865189
SNPdbe	rs370865189
MSV3d	rs370865189
GWAS Ctlg	rs370865189

Max Magnitude

0

ClinVar
Risk	rs370865189(C;C) rs370865189(T;T)
Alt	rs370865189(C;C) rs370865189(T;T)
Reference	Rs370865189(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type I Infantile cortical hyperostosis Osteogenesis Imperfecta Ehlers-Danlos syndrome not specified
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta type I Infantile cortical hyperostosis Osteogenesis Imperfecta, Dominant Ehlers-Danlos syndrome, type 7A not specified
Reversed	0
HGVS	NC_000017.10:g.48264489G>C; NC_000017.10:g.48264489G>T
CLNSRC
CLNACC	RCV000490697.1, RCV000304006.1, RCV000354143.1, RCV000404536.1, RCV000437374.1,